F11

coagulation factor XI

Summary

This gene encodes coagulation factor XI of the blood coagulation cascade. This protein is present in plasma as a zymogen, which is a unique plasma coagulation enzyme because it exists as a homodimer consisting of two identical polypeptide chains linked by disulfide bonds. During activation of the plasma factor XI, an internal peptide bond is cleaved by factor XIIa (or XII) in each of the two chains, resulting in activated factor XIa, a serine protease composed of two heavy and two light chains held together by disulfide bonds. This activated plasma factor XI triggers the middle phase of the intrisic pathway of blood coagulation by activating factor IX. Defects in this factor lead to Rosenthal syndrome, a blood coagulation abnormality. [provided by RefSeq, Jul 2008]

Known Variants523 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs3756008	4:187,185,385	A/T	upstream gene variant	—
rs555610974	4:187,185,477	T/C	—	—
rs142867288	4:187,185,533	C/T	upstream gene variant	—
rs960799140	4:187,186,992	A/G	—	uncertain significance
rs1004061199	4:187,186,995	G/A	—	uncertain significance
rs192994982	4:187,187,003	A/G	—	likely benign
rs753031984	4:187,187,125	C/G	—	uncertain significance
rs3733403	4:187,187,135	C/G	regulatory region variant	benign
rs886059296	4:187,187,151	C/T	—	uncertain significance
rs1263431242	4:187,187,218	C/T	—	uncertain significance
rs886059297	4:187,187,268	T/C	—	uncertain significance
rs1739485056	4:187,187,287	G/A	—	uncertain significance
rs2126696047	4:187,187,298	T/G	—	uncertain significance
rs755606015	4:187,187,381	G/A	—	uncertain significance
rs1043431996	4:187,187,394	G/A	—	uncertain significance
rs4253814	4:187,187,397	G/A	—	likely benign
rs1580057911	4:187,187,449	G/C	—	uncertain significance
rs925451	4:187,187,569	G/A	intron variant	—
rs4253398	4:187,188,061	C/T	—	benign
rs4253399	4:187,188,094	T/G	regulatory region variant	benign
rs3822057	4:187,188,152	A/C	—	benign
rs1554081281	4:187,188,292	T/A	—	likely pathogenic
rs755700350	4:187,188,293	G/T	missense variant	pathogenic
rs773354096	4:187,188,296	T/A	—	likely benign
rs1554081288	4:187,188,306	C/T	—	pathogenic
rs771485861	4:187,188,307	A/G	—	uncertain significance
rs1057516616	4:187,188,315	—	—	pathogenic
rs774676239	4:187,188,316	A/G	—	uncertain significance
rs759936044	4:187,188,335	A/C	—	likely benign
rs2477149451	4:187,188,340	C/G	—	uncertain significance
rs1159780956	4:187,188,347	T/C	—	likely pathogenic
rs1739571881	4:187,188,351	T/G	—	uncertain significance
rs765311117	4:187,188,361	T/G	—	likely benign
rs2036914	4:187,192,481	T/C	intron variant	benign
rs4253833	4:187,192,678	T/C	—	benign
rs746398473	4:187,192,754	A/G	—	likely benign
rs374122923	4:187,192,757	T/C	—	conflicting classifications of pathogenicity
rs1739959023	4:187,192,767	T/A	—	likely pathogenic
rs768409400	4:187,192,774	C/T	stop gained	pathogenic
rs932824943	4:187,192,796	T/C	—	uncertain significance
rs281875259	4:187,192,801	G/A	—	uncertain significance
rs368183250	4:187,192,803	A/C	—	likely benign
rs1328599983	4:187,192,806	G/A	—	likely benign
rs281875267	4:187,192,807	G/C	—	uncertain significance
rs370826424	4:187,192,812	T/C	—	likely benign
rs762996950	4:187,192,818	G/A	—	likely benign
rs1165596644	4:187,192,819	G/T	—	uncertain significance
rs1580070133	4:187,192,821	C/T	—	likely benign
rs751437478	4:187,192,824	C/T	—	likely benign
rs754973084	4:187,192,833	C/T	—	likely benign
rs281875264	4:187,192,834	G/A	—	uncertain significance
rs1052041692	4:187,192,839	G/A	—	likely benign
rs281875271	4:187,192,844	G/T	—	not provided
rs923326047	4:187,192,854	C/T	—	likely benign
rs281875243	4:187,192,858	A/C	—	pathogenic
rs281875252	4:187,192,859	C/T	—	conflicting classifications of pathogenicity
rs281875261	4:187,192,866	C/A	—	uncertain significance
rs2126720628	4:187,192,869	A/G	—	likely benign
rs2477208674	4:187,192,870	A/C	—	likely benign
rs121965069	4:187,192,873	T/C	missense variant	pathogenic
rs1739974269	4:187,192,875	T/A	—	pathogenic
rs2126720720	4:187,192,887	T/C	—	likely benign
rs1477849584	4:187,192,893	G/C	—	likely benign
rs281875244	4:187,192,895	C/G	—	likely pathogenic
rs140731806	4:187,192,896	G/T	—	likely benign
rs144595035	4:187,192,903	C/T	—	conflicting classifications of pathogenicity
rs772851488	4:187,192,908	T/C	—	likely benign
rs1002456131	4:187,192,913	A/G	—	uncertain significance
rs1057516738	4:187,192,926	G/A	—	pathogenic
rs767240420	4:187,192,929	A/G	—	conflicting classifications of pathogenicity
rs1477956290	4:187,192,932	G/A	—	likely benign
rs369667028	4:187,192,933	C/T	—	likely benign
rs757477535	4:187,192,936	A/T	—	likely benign
rs765301008	4:187,192,943	T/C	—	likely benign
rs750564001	4:187,192,944	A/G	—	likely benign
rs11940999	4:187,192,945	C/T	—	benign
rs1204862753	4:187,194,205	T/C	—	likely benign
rs555473629	4:187,194,206	G/A	—	likely benign
rs886059298	4:187,194,214	T/A	—	conflicting classifications of pathogenicity
rs767278798	4:187,194,215	A/T	—	likely benign
rs762013077	4:187,194,225	G/A	stop gained	pathogenic
rs2477228328	4:187,194,234	T/A	—	likely pathogenic
rs1433941674	4:187,194,236	T/C	—	uncertain significance
rs2477228768	4:187,194,255	A/G	—	likely benign
rs374703864	4:187,194,276	T/C	—	likely benign
rs2477229263	4:187,194,278	G/T	—	likely benign
rs1313615649	4:187,194,288	G/A	—	likely benign
rs1740104431	4:187,194,297	G/A	—	likely benign
rs281875272	4:187,194,308	A/G	—	likely pathogenic
rs543131176	4:187,194,310	C/T	—	pathogenic
rs1740106721	4:187,194,318	A/G	—	likely benign
rs768474112	4:187,194,331	G/A	missense variant	pathogenic
rs140190776	4:187,194,332	G/A	—	pathogenic
rs372102736	4:187,194,336	G/T	—	uncertain significance
rs763099900	4:187,194,338	T/C	—	likely benign
rs751658884	4:187,194,341	G/A	—	likely benign
rs4253837	4:187,195,150	C/T	—	benign
rs1740185517	4:187,195,250	T/C	—	likely benign
rs746974268	4:187,195,256	G/C	—	likely benign
rs768384279	4:187,195,263	T/C	—	likely benign

Showing 100 of 523 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.